Patterson-Stevenson-Fontaine syndrome

Summary

Patterson-Stevenson-Fontaine syndrome (MONDO:0008465) is a disease. A subtype of acrofacial dysostosis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 12

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		7	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

12 HPO clinical features (Orphanet curated; top 12 by frequency):

HPO ID	Term	Frequency
HP:0000175	Cleft palate	Frequent (30-79%)
HP:0000272	Malar flattening	Frequent (30-79%)
HP:0000347	Micrognathia	Frequent (30-79%)
HP:0000377	Abnormal pinna morphology	Frequent (30-79%)
HP:0000400	Macrotia	Frequent (30-79%)
HP:0001770	Toe syndactyly	Frequent (30-79%)
HP:0001839	Split foot	Frequent (30-79%)
HP:0005321	Mandibulofacial dysostosis	Frequent (30-79%)
HP:0000218	High palate	Occasional (5-29%)
HP:0000407	Sensorineural hearing impairment	Occasional (5-29%)
HP:0000678	Dental crowding	Occasional (5-29%)
HP:0004467	Preauricular pit	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	Patterson-Stevenson-Fontaine syndrome
Mondo ID	MONDO:0008465
OMIM	183700
Orphanet	2439
SNOMED CT	724069009
UMLS	C5574964
MedGen	1808766
GARD	0004260
Is cancer (heuristic)	no

Also known as: Patterson Stevenson Fontaine syndrome · Patterson-Stevenson syndrome · Patterson-Stevenson-Fontaine syndrome · split foot deformity-mandibulofacial dysostosis syndrome · split-foot deformity with ectrodactyly and mandibulofacial dysostosis

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › acrofacial dysostosis › Patterson-Stevenson-Fontaine syndrome

Related subtypes (13): acrofacial dysostosis, Catania type, acrofacial dysostosis, Weyers type, acrocraniofacial dysostosis, acrofacial dysostosis Rodriguez type, acrofrontofacionasal dysostosis, postaxial acrofacial dysostosis, acrofacial dysostosis, Palagonia type, acromelic frontonasal dysostosis, mandibulofacial dysostosis-microcephaly syndrome, acrofacial dysostosis Cincinnati type, acrofacial dysostosis, Kennedy-Teebi type, acrofacial dysostosis Preis type, SF3B4-related acrofacial dysostosis

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.